%0 Journal Article
%T Diagnosis and mortality in 47,XYY persons: a registry study
%A Kirstine Stochholm
%A Svend Juul
%A Claus H Gravholt
%J Orphanet Journal of Rare Diseases
%D 2010
%I BioMed Central
%R 10.1186/1750-1172-5-15
%X Using a national Danish registry, we identified 208 persons with 47,XYY or a compatible karyotype, whereof 36 were deceased; all were diagnosed from 1968 to 2008. For further analyses, we identified age matched controls from the male background population (n = 20,078) in Statistics Denmark. We report nationwide prevalence data, data regarding age at diagnosis, as well as total and cause specific mortality data in these persons.The average prevalence was 14.2 47,XYY persons per 100,000, which is reduced compared to the expected 98 per 100,000. Their median age at diagnosis was 17.1 years. We found a significantly decreased lifespan from 77.9 years (controls) to 67.5 years (47,XYY persons). Total mortality was significantly increased compared to controls, with a hazard ratio of 3.6 (2.6-5.1). Dividing the causes of deaths according to the International Classification of Diseases, we identified an increased hazard ratio in all informative chapters, with a significantly increased ratio in cancer, pulmonary, neurological and unspecified diseases, and trauma.We here present national epidemiological data regarding 47,XYY syndrome, including prevalence and mortality data, showing a significantly delay to diagnosis, reduced life expectancy and an increased total and cause specific mortality.One of the first descriptions of 47,XYY is from 1965 by Jacobs et al [1]. Here a chromosome survey of male patients at the State Hospital in Carstairs was conducted. The hypothesis being that 47,XYY was particularly frequent among inmates in penal institutions. Later, other studies took place in hospitals among consecutively born babies [2-7] using techniques enabling the identification of extra Y chromosome material. These studies identified highly variable number of 47,XYY persons, ranging in liveborn from 26 per 100,000 [2] to 375 per 100,000 [4]. We calculated the prevalence of 47,XYY at birth by pooling data from the surveys in consecutively liveborn babies in various countries and e
%U http://www.ojrd.com/content/5/1/15